Abnormal chromosome 9 in a neonate program. Report of three cases.
We describe three cases with abnormal chromosome 9. Patient 1 shows translocation in a homologous chromosome, with a karyotype of 46,XX,t(9;9)(9pter----cen----9pter; 9qter----cen::9q13----9qter), 1qh+. This case has a variety of anomalies, including brain anomalies. Patient 2 shows a partial trisomy 9p with a karyotype of 47,XY,+del(9)(pter----q11:). The patient has the typical clinical features of 9p trisomy syndrome. Patient 3 is unique because of partial 9p tetrasomy mosaicism without phenotypic abnormalities; the karyotype is mos 46,XY/47,XY,+dic(9)(pter----cen----q21::q21----cen----pter).
Nakamura
Y
Y
Department of Medical Technology, St Mary's Hospital, Kurume, Japan.
Sato
E
E
Sakai
K
K
Sakuma
S
S
Hashimoto
T
T
Sindou
S
S
D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy